Anti-GTP cyclohydrolase 1抗体(ab106826)

概述

  • 产品名称
    Anti-GTP cyclohydrolase 1抗体
    参阅全部 GTP cyclohydrolase 1 一抗
  • 描述
    山羊多克隆抗体to GTP cyclohydrolase 1
  • 特异性
    ab106826 is expected to recognize all four isoforms (NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1).
  • 经测试应用
    适用于: WBmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse, Rat, Rabbit, Chicken, Cow, Dog
  • 免疫原

    Synthetic peptide:

    C-GKVHIGYLPNKQ

    , corresponding to internal sequence amino acids 150-161 of Human GTP cyclohydrolase 1 (NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1).

  • 阳性对照
    • Human Lymph Node, Thymus and Tonsil lysates

性能

应用

Our Abpromise guarantee covers the use of ab106826 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB Use a concentration of 1 - 3 µg/ml. Detects a band of approximately 37 kDa (predicted molecular weight: 28 kDa).

靶标

  • 功能
    Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
  • 组织特异性
    In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • 通路
    Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.
  • 疾病相关
    Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]; also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.
    Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without side effects.
  • 序列相似性
    Belongs to the GTP cyclohydrolase I family.
  • 翻译后修饰
    Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • 细胞定位
    Cytoplasm. Nucleus.
  • Information by UniProt
  • 数据库链接
  • 别名
    • dystonia 14 antibody
    • DYT 5 antibody
    • DYT14 antibody
    • DYT5 antibody
    • DYT5a antibody
    • GCH 1 antibody
    • GCH antibody
    • Gch1 antibody
    • GCH1_HUMAN antibody
    • GTP CH 1 antibody
    • GTP CH I antibody
    • GTP cyclohydrolase 1 (dopa responsive dystonia) antibody
    • GTP cyclohydrolase 1 antibody
    • GTP cyclohydrolase I antibody
    • GTP-CH-I antibody
    • GTPCH 1 antibody
    • GTPCH1 antibody
    • Guanosine 5' triphosphate cyclohydrolase I antibody
    • HPABH4B antibody
    see all

图片

  • Anti-GTP cyclohydrolase 1 antibody (ab106826) at 1 µg/ml + Human thymus lysate in RIPA buffer at 35 µg
    Developed using the ECL technique

    Predicted band size : 28 kDa
    Observed band size : 37 kDa (why is the actual band size different from the predicted?)

实验方案

文献

ab106826 has not yet been referenced specifically in any publications.

客户评价及客户问答

Application
Western blot
Sample
Rabbit Tissue lysate - whole (fetal brain)
Gel Running Conditions
Non-reduced Denaturing
Loading amount
2 µg
Specification
fetal brain
Blocking step
BSA as blocking agent for 30 minute(s) · Concentration: 5% · Temperature: 20°C
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提交于 Dec 12 2016

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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